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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:
PA645501146
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236692
ClinVar RCV Id:
RCV000232136
RCV000479651
RCV000574247
RCV003238746
RCV002503882
RCV004547575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp860Val
CA6265063
NM_000051.4:c.2579A>T