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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA2532861696
Gene: ANOS2P
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13765642_13765657del , CM000686.2:g.13765642_13765657del
GRCh38
NC_000024.9:g.15877522_15877537del , CM000686.1:g.15877522_15877537del
GRCh37
NC_000024.8:g.14386916_14386931del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000652544.1:n.684+10853_684+10868del
ENST00000430079.5:n.429+10853_429+10868del
ENST00000460561.1:n.212+10853_212+10868del
ENST00000472227.5:n.350+13637_350+13652del
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