ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829688798
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491030
ClinVar RCV Id:
RCV000582632
RCV001044492
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile394Met
CA10599406
NM_007297.4:c.1182A>G