ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828765228
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2038333
ClinVar RCV Id:
RCV002890681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ala2624Pro
CA50377594
NM_001378454.1:c.7870G>C