ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741910635
Gene: DSP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2567539
ClinVar RCV Id:
RCV003278558
RCV003777258
RCV004009722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004406.2:p.Thr1183Ile
CA362684315
NM_004415.4:c.3548C>T