ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260307
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000537025
RCV000607797
RCV000608881
RCV000680480
RCV001125486
RCV001125487
RCV001125488
RCV001535421
RCV002276575
RCV002433474
ClinVar Variation:
35918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro978Ser
CA260305
NM_000088.4:c.2932C>T