ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827345
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547227
ClinVar RCV Id:
RCV000659351
RCV003631152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Glu486Lys
CA400217610
NM_000088.4:c.1456G>A