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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
Allele Registry
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Canonical Allele Identifier:
CA2562829977
Gene: GYG2P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12312051_12312052insA , CM000686.2:g.12312051_12312052insA
GRCh38
NC_000024.9:g.14432778_14432779insA , CM000686.1:g.14432778_14432779insA
GRCh37
NC_000024.8:g.12942786_12942787insA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651802.1:n.451-70644_451-70643insT
ENST00000651835.1:n.320-54021_320-54020insT
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