ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166187
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000049205
RCV000077634
RCV000130323
RCV001588880
ClinVar Variation:
55766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala322Thr
CA003988
NM_007294.4:c.964G>A