ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697294
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479223
ClinVar RCV Id:
RCV000570314
RCV001076224
RCV001372578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp1692Asn
CA10591111
NM_007297.4:c.5074G>A