ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828765441
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3010495
ClinVar RCV Id:
RCV003862134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.His2821Leu
CA347268986
NM_001378454.1:c.8462A>T