ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645451965
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418140
ClinVar RCV Id:
RCV000659352
RCV001125674
RCV001125673
RCV001125672
RCV002279235
RCV001508818
RCV002413314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Arg564His
CA8645135
NM_000088.4:c.1691G>A