ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580103796
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1702183
ClinVar RCV Id:
RCV002277970
RCV003101585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Arg312His
CA291547212
NM_000088.4:c.935G>A