ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995813
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000573940
RCV000807143
RCV002509446
ClinVar Variation:
481450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser324Asn
CA10600122
NM_007300.4:c.971G>A