ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829709178
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
479256
ClinVar RCV:
RCV000570314
RCV001076224
RCV001372578
ClinVar Variation:
479223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Asp1760Asn
CA10591111
NM_007300.4:c.5278G>A