ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA357570
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000205469
RCV000218038
RCV000409651
RCV001562678
ClinVar Variation:
220573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn916Ile
CA349629
NM_007294.4:c.2747A>T