Allele Registry

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.

Canonical Allele Identifier: PA645469639

Gene: KCNMA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265313

ClinVar RCV Id: RCV000255423 RCV000504575

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001014797.1:p.Asn999Ser	CA10588480 NM_001014797.3:c.2996A>G