ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741810215
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2715318
ClinVar RCV Id:
RCV003518266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly485Ser
CA400217621
NM_000088.4:c.1453G>A