ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260286
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000029561
RCV000585102
RCV001087782
RCV002408480
ClinVar Variation:
35906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Ala628Thr
CA260284
NM_000088.4:c.1882G>A